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Metadata
ID DOID:0110270
Name cataract 17 multiple types
Definition A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12.
https://www.ncbi.nlm.nih.gov/pubmed/12360425
Xrefs

ICD10CM:Q12.0

MIM:611544

Synonyms

autosomal recessive congenital nuclear cataract 3 [NARROW]

CATCN3 [NARROW]

CTRCT17 [EXACT]

Parent Relationships

is_a cataract

is_a autosomal recessive disease

is_a autosomal dominant disease

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